Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients

Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of development of primordial germ cells (PGCs) and their conne...

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Autores principales: Aline Fernanda de Souza, Fabiana Fernandes Bressan, Naira Caroline Godoy Pieri, Ramon Cesar Botigelli, Tamas Revay, Simone Kashima Haddad, Dimas Tadeu Covas, Ester Silveira Ramos, Willian Allan King, Flavio Vieira Meirelles
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Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/bd63ec6557c94184bad4ea841cd1c3ab
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spelling oai:doaj.org-article:bd63ec6557c94184bad4ea841cd1c3ab2021-11-25T17:11:30ZGeneration of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients10.3390/cells101130992073-4409https://doaj.org/article/bd63ec6557c94184bad4ea841cd1c3ab2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4409/10/11/3099https://doaj.org/toc/2073-4409Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of development of primordial germ cells (PGCs) and their connection with ovarian failure in TS is poorly understood. An in vitro model of PGCs from TS would be beneficial for investigating genetic and epigenetic factors that influence germ cell specification. Here we investigated the potential of reprogramming peripheral mononuclear blood cells from TS women (PBMCs-TS) into iPSCs following in vitro differentiation in hPGCLCs. All hiPSCs-TS lines demonstrated pluripotency state and were capable of differentiation into three embryonic layers (ectoderm, endoderm, and mesoderm). The PGCLCs-TS recapitulated the initial germline development period regarding transcripts and protein marks, including the epigenetic profile. Overall, our results highlighted the feasibility of producing in vitro models to help the understanding of the mechanisms associated with germ cell formation in TS.Aline Fernanda de SouzaFabiana Fernandes BressanNaira Caroline Godoy PieriRamon Cesar BotigelliTamas RevaySimone Kashima HaddadDimas Tadeu CovasEster Silveira RamosWillian Allan KingFlavio Vieira MeirellesMDPI AGarticleTurner syndromeiPSCsPGCLCsBiology (General)QH301-705.5ENCells, Vol 10, Iss 3099, p 3099 (2021)
institution DOAJ
collection DOAJ
language EN
topic Turner syndrome
iPSCs
PGCLCs
Biology (General)
QH301-705.5
spellingShingle Turner syndrome
iPSCs
PGCLCs
Biology (General)
QH301-705.5
Aline Fernanda de Souza
Fabiana Fernandes Bressan
Naira Caroline Godoy Pieri
Ramon Cesar Botigelli
Tamas Revay
Simone Kashima Haddad
Dimas Tadeu Covas
Ester Silveira Ramos
Willian Allan King
Flavio Vieira Meirelles
Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients
description Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. The mechanism of development of primordial germ cells (PGCs) and their connection with ovarian failure in TS is poorly understood. An in vitro model of PGCs from TS would be beneficial for investigating genetic and epigenetic factors that influence germ cell specification. Here we investigated the potential of reprogramming peripheral mononuclear blood cells from TS women (PBMCs-TS) into iPSCs following in vitro differentiation in hPGCLCs. All hiPSCs-TS lines demonstrated pluripotency state and were capable of differentiation into three embryonic layers (ectoderm, endoderm, and mesoderm). The PGCLCs-TS recapitulated the initial germline development period regarding transcripts and protein marks, including the epigenetic profile. Overall, our results highlighted the feasibility of producing in vitro models to help the understanding of the mechanisms associated with germ cell formation in TS.
format article
author Aline Fernanda de Souza
Fabiana Fernandes Bressan
Naira Caroline Godoy Pieri
Ramon Cesar Botigelli
Tamas Revay
Simone Kashima Haddad
Dimas Tadeu Covas
Ester Silveira Ramos
Willian Allan King
Flavio Vieira Meirelles
author_facet Aline Fernanda de Souza
Fabiana Fernandes Bressan
Naira Caroline Godoy Pieri
Ramon Cesar Botigelli
Tamas Revay
Simone Kashima Haddad
Dimas Tadeu Covas
Ester Silveira Ramos
Willian Allan King
Flavio Vieira Meirelles
author_sort Aline Fernanda de Souza
title Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients
title_short Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients
title_full Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients
title_fullStr Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients
title_full_unstemmed Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients
title_sort generation of primordial germ cell-like cells from ipscs derived from turner syndrome patients
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/bd63ec6557c94184bad4ea841cd1c3ab
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